MCID: SYN001
MIFTS: 49

Syndactyly malady

Genetic diseases, Bone diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Syndactyly

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 36MeSH, 59SNOMED-CT, 65UMLS, 29ICD9CM, 42NCIt, 27ICD10
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Aliases & Descriptions for Syndactyly:

Name: Syndactyly 10 47 12 36
Chromosome 2q35 Duplication Syndrome 10
Webbing of Digits 10
 
Symphalangism 10
Symphalangy 10


Classifications:



External Ids:

Disease Ontology10 DOID:11193
MeSH36 D013576
ICD9CM29 755.1
NCIt42 C87125
ICD1027 Q70

Summaries for Syndactyly

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Wikipedia:68 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a... more...

MalaCards based summary: Syndactyly, also known as chromosome 2q35 duplication syndrome, is related to jackson-weiss syndrome and ladd syndrome. An important gene associated with Syndactyly is HOXD13 (Homeobox D13). Affiliated tissues include skin, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Disease Ontology:10 A synostosis that results in the fusion of two or more digits.

Related Diseases for Syndactyly

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Diseases in the Syndactyly family:

Syndactyly, Type V Syndactyly, Type Iii
Syndactyly, Type Iv Syndactyly Type 8
Syndactyly Type 6

Diseases related to Syndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 555)
idRelated DiseaseScoreTop Affiliating Genes
1jackson-weiss syndrome30.3FGFR2, FGFR3
2ladd syndrome30.2FGFR2, FGFR3, TP63
3asphyxiating thoracic dystrophy30.1FGFR2, GLI3, TP63
4acrodermatitis30.1FGFR2, FGFR3, GLI3
5fraser syndrome30.1FRAS1, FREM2, GRIP1
6split hand foot malformation 130.1BHLHA9, FBXW4, TP63
7lipoma30.0FGFR2, TP63
8syndactyly, type v10.5
9syndactyly, type iii10.5
10syndactyly, type iv10.5
11synpolydactyly10.5
12syndactyly, mesoaxial synostotic, with phalangeal reduction10.5
13polydactyly10.5
14craniosynostosis, philadelphia type10.5
15symphalangism, proximal, 1a10.5
16cenani-lenz syndactyly syndrome10.5
17oculodentodigital dysplasia10.4
18cryptophthalmos10.4
19apert syndrome10.4
20ectodermal dysplasia10.4
21brachydactyly-syndactyly syndrome10.4
22symphalangism, proximal, 1b10.4
23thai symphalangism syndrome10.4
24star syndrome10.3
25filippi syndrome10.3
26greig cephalopolysyndactyly syndrome10.3
27timothy syndrome10.3
28brachydactyly10.3
29ectodermal dysplasia-syndactyly syndrome 110.3
30synpolydactyly, type ii10.3
31cleft lip10.3
32talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals10.3GLI3, HOXD13
33blepharophimosis with ptosis, syndactyly, and short stature10.3
34ectodermal dysplasia mental retardation syndactyly10.3
35tarsal-carpal coalition syndrome10.3
36symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch10.3
37tracheoesophageal fistula symphalangism10.3
38megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3
39keloids10.3
40poland syndrome10.3
41microcephaly10.3
42ectodermal dysplasia - syndactyly syndrome10.3
43tryptophan hydroxylase deficiency10.2HOXD13, LMBR1
44cleft lip/palate-ectodermal dysplasia syndrome10.2
45microphthalmia with limb anomalies10.2
46carpenter syndrome10.2
47syndactyly-polydactyly-earlobe syndrome10.2
48keloid formation10.2
49symphalangism brachydactyly craniosynostosis10.2
50symphalangism short stature accessory testis10.2

Graphical network of the top 20 diseases related to Syndactyly:



Diseases related to syndactyly

Symptoms for Syndactyly

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Drugs & Therapeutics for Syndactyly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
4Syndactyly Repair: Comparison of Skin Graft and No Skin Graft TechniquesActive, not recruitingNCT01416090
5Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital CompressionNot yet recruitingNCT02548260

Search NIH Clinical Center for Syndactyly


Cochrane evidence based reviews: Syndactyly

Genetic Tests for Syndactyly

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Anatomical Context for Syndactyly

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MalaCards organs/tissues related to Syndactyly:

33
Skin, Bone, Eye, Testes, Kidney

Animal Models for Syndactyly or affiliated genes

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MGI Mouse Phenotypes related to Syndactyly:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3FGFR2, FGFR3, FREM2, GJA1, GLI3
2MP:00053818.6FGFR2, FGFR3, FRAS1, GLI3, HOXD13, TP63
3MP:00030128.4FBXW4, FGFR2, FGFR3, FRAS1, GJA1, GLI3
4MP:00053827.8FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
5MP:00053807.5FBXW4, FGFR2, FREM2, GJA1, GLI3, GRIP1
6MP:00053907.2FBN2, FBXW4, FGFR2, FGFR3, FREM2, GJA1
7MP:00053857.1FBN2, FGFR2, FRAS1, FREM2, GJA1, GLI3
8MP:00053677.0FGFR2, FGFR3, FRAS1, FREM2, GLI3, GRIP1
9MP:00053917.0FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
10MP:00053886.6FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
11MP:00107716.5FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
12MP:00053786.4FBN2, FGFR2, FGFR3, FREM2, GJA1, GLI3
13MP:00053715.7FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2
14MP:00107685.4FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2

Publications for Syndactyly

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Articles related to Syndactyly:

(show top 50)    (show all 442)
idTitleAuthorsYear
1
Dorsal plane-shaped advancement flap for the reconstruction of web space in syndactyly without skin grafting: A preliminary report. (26190763)
2015
2
Syndactyly Web Space Reconstruction Using the Tapered M-to-V Flap: A Single-Surgeon, 30-Year Experience. (26163923)
2015
3
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly. (25542431)
2015
4
Syndactyly correction using a venous flap with the plantar cutaneous venous arch. (24841825)
2014
5
Formation of normal interdigital web spaces in the hand revisited: implications for the pathogenesis of syndactyly in humans and experimental animals. (23719174)
2013
6
Bilateral macrodystrophia lipomatosa with syndactyly: a case report and literature review. (24164136)
2013
7
Long-term aesthetic outcome of fingertip reconstruction in complete syndactyly release. (23027834)
2013
8
Treatment of congenital syndactyly of the fingers. (23970273)
2013
9
The use of IntegraAr bilaminar dermal regeneration template in apert syndactyly reconstruction: a novel alternative to simplify care and improve outcomes. (21775231)
2012
10
A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. (22786669)
2012
11
A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). (21915623)
2011
12
Correction of syndactyly using a dorsal separated V-Y advancement flap and a volar triangular flap in adults. (21301304)
2011
13
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. (18474936)
2008
14
Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. (18729207)
2008
15
An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome. (17515167)
2007
16
Genetic analysis of syndactyly in German Holstein cattle. (16427589)
2006
17
Macrodactyly, syndactyly, and localized gigantism of the forefoot. A case report. (16878777)
2005
18
Contrary intermittent skin release of complete syndactyly without skin graft in adults. (16186698)
2005
19
Acquired syndactyly secondary to acrodermatitis continua of Hallopeau. (15888186)
2005
20
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. (15194949)
2004
21
Clinical experience using the dorsal reverse metacarpal flap for the treatment of congenital syndactyly: report of four cases. (16518217)
2003
22
A case of a rare association of spastic paraplegia and type III syndactyly. (11784386)
2002
23
The open finger technique for release of syndactyly. (11560439)
2001
24
The open finger technique for the release of syndactyly. (11162004)
2001
25
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. (10678662)
2000
26
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. (10735635)
2000
27
Treatment of syndactyly. (16801754)
1998
28
Identity-by-descent mapping of recessive traits in livestock: application to map the bovine syndactyly locus to chromosome 15. (8796345)
1996
29
In vitro model of syndactyly replicates the morphologic features observed in vivo. (7568495)
1995
30
A new form of long QT syndrome associated with syndactyly. (7798527)
1995
31
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. (7717420)
1995
32
Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly. (8141890)
1994
33
Surgical management of syndactyly in a dog. (7890572)
1994
34
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. (8116666)
1994
35
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
36
Nonadjacent syndactyly in the congenital constriction band syndrome. (1311343)
1992
37
Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia. (1654744)
1991
38
Surgical method for treatment of syndactyly with osseous fusion of the distal phalanges. (1845781)
1991
39
Local epidermoplasty for syndactyly. (1649142)
1991
40
Syndactyly. (2176654)
1990
41
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. (2167611)
1990
42
Hereditary bovine syndactyly: diagnosis in bovine fetuses. (3033869)
1987
43
Syndactyly induced by Janus Green B in the embryonic chick leg bud: a reexamination. (6099849)
1984
44
Syndactyly and split hand. Supplement. (213354)
1978
45
An operation for syndactyly, and its results. (185638)
1976
46
Management of burn syndactyly. (4367128)
1974
47
Micrognathia, hypodontia and syndactyly. (4375510)
1971
48
Mandibulo-facial dysostosis with syndactyly. (4319056)
1970
49
Bilateral ptosis and atypical slant eyes associated with unilateral syndactyly, adactyly and brachyphalangia. (20246987)
1946
50
Unusual Form of Syndactyly. (19983292)
1923

Variations for Syndactyly

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Expression for genes affiliated with Syndactyly

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Search GEO for disease gene expression data for Syndactyly.

Pathways for genes affiliated with Syndactyly

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GO Terms for genes affiliated with Syndactyly

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Biological processes related to Syndactyly according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1gland morphogenesisGO:002261210.6FGFR2, HOXD13
2prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:006052710.5FGFR2, HOXD13
3squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.5FGFR2, TP63
4embryonic digestive tract morphogenesisGO:004855710.5FGFR2, GLI3
5regulation of branching involved in prostate gland morphogenesisGO:006068710.4FGFR2, HOXD13
6negative regulation of smoothened signaling pathwayGO:004587910.4FGFR3, GLI3
7anatomical structure formation involved in morphogenesisGO:004864610.3GLI3, TP63
8lens fiber cell developmentGO:007030710.3FGFR2, FGFR3
9negative regulation of mitotic nuclear divisionGO:004583910.3FGFR2, FGFR3
10anatomical structure developmentGO:004885610.3GLI3, LRP4
11positive regulation of phospholipase activityGO:001051810.1FGFR2, FGFR3
12pattern specification processGO:000738910.1GLI3, HOXD13, TP63
13positive regulation of mesenchymal cell proliferationGO:000205310.0FBXW4, FGFR2, TP63
14positive regulation of MAPK cascadeGO:00434109.9FAM58A, FGFR2, FGFR3
15limb developmentGO:00601739.8FBXW4, GLI3, LRP4
16proximal/distal pattern formationGO:00099549.6GLI3, LRP4, TP63
17positive regulation of osteoblast differentiationGO:00456699.6FBN2, GLI3, TP63
18odontogenesis of dentin-containing toothGO:00424759.5GLI3, LRP4, TP63
19inner ear developmentGO:00488399.4FGFR3, FREM2, GLI3
20cell communicationGO:00071549.3FRAS1, FREM2, GJA1
21limb morphogenesisGO:00351089.2FBN2, GLI3, HOXD13
22embryonic digit morphogenesisGO:00427339.2FBXW4, GLI3, HOXD13, LMBR1, LRP4
23morphogenesis of an epitheliumGO:00020099.1FGFR3, FRAS1, FREM2
24embryonic limb morphogenesisGO:00303267.7FBN2, FBXW4, FRAS1, GLI3, HOXD13, LRP4

Molecular functions related to Syndactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.9FGFR2, FGFR3

Sources for Syndactyly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet